ClinVar Genomic variation as it relates to human health
NC_000005.9:g.(?_138266142)_(138861289_?)dup
Germline
Classification
(1)
Uncertain significance
criteria provided, single submitter
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation | Variation Viewer | Related variants | ||
---|---|---|---|---|---|---|
HI score | TS score | Within gene | All | |||
CTNNA1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
2822 | 2878 | |
DNAJC18 | - | - | - |
GRCh38 GRCh38 GRCh37 |
17 | 45 |
ECSCR | - | - |
GRCh38 GRCh38 GRCh37 |
1 | 29 | |
MATR3 | - | - |
GRCh38 GRCh37 |
411 | 529 | |
MZB1 | - | - |
GRCh38 GRCh37 |
9 | 40 | |
PAIP2 | - | - |
GRCh38 GRCh37 |
6 | 34 | |
PROB1 | - | - | - |
GRCh38 GRCh37 |
4 | 105 |
SIL1 | - | - |
GRCh38 GRCh37 |
348 | 383 | |
SLC23A1 | - | - |
GRCh38 GRCh37 |
28 | 56 | |
SNHG4 | - | - | - |
GRCh38 GRCh37 |
- | 30 |
There are 2 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
May 28, 2022 | RCV003107539.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Nov 11, 2023